De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-Reference-Cited by-同舟云学术

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Published:2014-04-06 Issue:5 Volume:46 Page:510-515
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Mirzaa Ghayda M, ,Parry David A^ORCID,Fry Andrew E,Giamanco Kristin A,Schwartzentruber Jeremy,Vanstone Megan,Logan Clare V^ORCID,Roberts Nicola,Johnson Colin A,Singh Shawn,Kholmanskikh Stanislav S,Adams Carissa,Hodge Rebecca D,Hevner Robert F,Bonthron David T,Braun Kees P J,Faivre Laurence,Rivière Jean-Baptiste,St-Onge Judith,Gripp Karen W,Mancini Grazia M S,Pang Ki,Sweeney Elizabeth,van Esch Hilde,Verbeek Nienke,Wieczorek Dagmar,Steinraths Michelle,Majewski Jacek,Boycott Kym M,Pilz Daniela T,Ross M Elizabeth,Dobyns William B,Sheridan Eamonn G

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2948.pdf

Reference24 articles.

1. Lee, J.H. et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat. Genet. 44, 941–945 (2012).

2. Lindhurst, M.J. et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat. Genet. 44, 928–933 (2012).

3. Rivière, J.B. et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat. Genet. 44, 934–940 (2012).

4. Kida, A., Kakihana, K., Kotani, S., Kurosu, T. & Miura, O. Glycogen synthase kinase-3β and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells. Oncogene 26, 6630–6640 (2007).

5. Poduri, A. et al. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 74, 41–48 (2012).

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